Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
PMID:24352916 reported a Japanese family with Cantu syndrome, of which the boy had bicoronal synostosis, which was absent in the father. Craniosynostosis has not previously been reported as part of Cantu syndrome. This gene should only be rated red as there is only one case reported so far.Created: 19 Jul 2023, 6:17 p.m. | Last Modified: 19 Jul 2023, 6:18 p.m.
Panel Version: 4.100
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrichotic osteochondrodysplasia (Cantu syndrome), OMIM: 239850
Publications
Tracy Lester (Genetics laboratory, Oxford UK)
Osteochondrodysplasia with thickened calvaria. Distinctive facial features. Sagittal & coronal CSS has been described in one individual (GeneReviews). ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ABCC9; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Phenotypes
-
- hypertrichotic osteochondrodysplasia, Cantu syndrome 239850
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Fetal anomalies
- Brugada syndrome and cardiac sodium channel disease
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ABCC9 were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: ABCC9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 for gene: ABCC9
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ABCC9 was added gene: ABCC9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: ABCC9 was set to